Term Name: Seckel syndrome 2
Synonyms: microcephalic primordial dwarfism 2, SCKL2, Seckel-type dwarfism 2
Definition: A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.
Ontology: Human Disease [DOID:0070013]   ( DOID:0070013 )

Relationships
is a type of: Seckel syndrome